Journal article icon

Journal article

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.

Abstract:

Menkes disease, an X-linked recessive disorder of copper metabolism, has recently been mapped to Xq13.3 by two Menkes patients carrying chromosome rearrangements within this region. The breakpoints have been investigated by nonisotopic in situ suppression hybridization using YACs isolated from this region with the flanking markers DXS56 and PGK1. Three YACs were extending over the breakpoints at Xq13.3 and were shown to be overlapping by partial digest restriction maps, IRS-PCR fingerprinting...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1093/hmg/1.7.483

Authors


Expand authors...
Journal:
Human molecular genetics
Volume:
1
Issue:
7
Pages:
483-489
Publication date:
1992-10-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:25ea2b33-57af-4f3e-a48b-8180853c4c4d
Source identifiers:
132542
Local pid:
pubs:132542

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP